title: Allogeneic haematopoietic stem cell transplantation as therapy for chronic granulomatous disease--single centre experience.
abstract: Chronic granulomatous disease (CGD) is phagocytic cell metabolic disorder resulting in recurrent infections and granuloma formation. This paper reports the favourable outcome of allogeneic transplantation in six high-risk CGD patients. The following donors were used: HLA-matched, related (two) and unrelated (three), and HLA-mismatched, unrelated (one). One patient was transplanted twice using the same sibling donor because of graft rejection at 6 months after reduced-intensity conditioning transplant (fludarabine and melphalan). Myeloablative conditioning regimen consisted of busulphan and cyclophosphamide. Stem cell source was unmanipulated bone marrow containing: 5.2 (2.6-6.5) × 10(8) nucleated cells, 3.8 (2.0-8.0) × 10(6) CD34+ cells and 45 (27-64) × 10(6) CD3+ cells per kilogramme. Graft-versus-host disease prophylaxis consisted of cyclosporine A and, for unrelated donors, short course of methotrexate and anti-T-lymphocyte globulin. Mean neutrophile and platelet engraftments were observed at day 22 (20-23) and day 20 (16-29), respectively. Pre-existing infections and inflammatory granulomas resolved. With the follow-up of 4-35 months (mean, 20 months), all patients are alive and well with full donor chimerism and normalized superoxide production.
authors.affiliation: Transplantation Centre, University Children's Hospital, 265 Wielicka Street, 30-633, Cracow, Poland. jgozdzik@cm-uj.krakow.pl
authors.forename: Jolanta
authors.initials: J
authors.lastname: Goździk
authors.forename: Anna
authors.initials: A
authors.lastname: Pituch-Noworolska
authors.forename: Szymon
authors.initials: S
authors.lastname: Skoczeń
authors.forename: Wojciech
authors.initials: W
authors.lastname: Czogała
authors.forename: Anna
authors.initials: A
authors.lastname: Wędrychowicz
authors.forename: Jarosław
authors.initials: J
authors.lastname: Baran
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Krasowska-Kwiecień
authors.forename: Oktawiusz
authors.initials: O
authors.lastname: Wiecha
authors.forename: Marek
authors.initials: M
authors.lastname: Zembala
mesh_terms: D000293:Adolescent; D015703:Antigens, CD; D002066:Busulfan / Q000008:administration & dosage*; D002648:Child; D002675:Child, Preschool; D003520:Cyclophosphamide / Q000008:administration & dosage*; D016572:Cyclosporine / Q000008:administration & dosage; D018572:Disease-Free Survival; D005260:Female; D006085:Graft Survival; D006086:Graft vs Host Disease / Q000517:prevention & control*; D006105:Granulomatous Disease, Chronic / Q000276:immunology / Q000401:mortality / Q000473:pathology / Q000628:therapy*; D006680:HLA Antigens / Q000276:immunology; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007223:Infant; D008297:Male; D019653:Myeloablative Agonists / Q000008:administration & dosage*; D012307:Risk Factors; D018183:Transplantation Chimera / Q000276:immunology; D019172:Transplantation Conditioning; D014184:Transplantation, Homologous
chemical_list: D015703:Antigens, CD; D006680:HLA Antigens; D019653:Myeloablative Agonists; D016572:Cyclosporine; D003520:Cyclophosphamide; D002066:Busulfan